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High-quality testing

Assay coverage

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory, offering panel and single gene genetic tests as well as exome analysis.

Panels and genes

Invitae's assay for panel and single gene tests includes both full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Full-gene sequencing: Covers clinically important regions of each gene, including coding exons, +/-10 base pairs of adjacent intronic sequence, and select noncoding variants. Any variants that fall outside these regions are not analyzed. For some genes, analysis may extend to the promoter region, include additional intronic variants, or be limited to targeted variants or exons. To find details, search for a specific gene or test.

Deletion/duplication analysis: Detects intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality.